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Nat Genet. 1995 Sep;11(1):99-102.

Monoallelic mutation analysis (MAMA) for identifying germline mutations.

Author information

1
Howard Hughes Medical Institute, Baltimore, Maryland, USA.

Abstract

Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal allele. Here we report the development of a sensitive and specific diagnostic strategy based on somatic cell hybridization termed MAMA (monoallelic mutation analysis). We have demonstrated the utility of this strategy in two different hereditary colorectal cancer syndromes, one caused by a defective tumour suppressor gene on chromosome 5 (familial adenomatous polyposis, FAP) and the other caused by a defective mismatch repair gene on chromosome 2 (hereditary non-polyposis colorectal cancer, HNPCC).

PMID:
7550326
DOI:
10.1038/ng0995-99
[Indexed for MEDLINE]

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